Canonical Allele Identifier: CA346819208

Gene: NRXN1

Linked Data

• MyVariant Identifiers: chr2:g.50318584C>A (hg19) ; chr2:g.50091446C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.50091446C>A , CM000664.2:g.50091446C>A	GRCh38
NC_000002.11:g.50318584C>A , CM000664.1:g.50318584C>A	GRCh37
NC_000002.10:g.50172088C>A	NCBI36
NG_011878.1:g.946091G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401669.7:c.3595G>T MANE Select	ENSP00000385017.2:p.Ala1199Ser
ENST00000637889.1:n.762G>T
ENST00000637906.1:c.482G>T	ENSP00000490198.1:n.482G>T
ENST00000342183.9:c.490G>T	ENSP00000341184.5:p.Ala164Ser
ENST00000401669.6:c.3595G>T	ENSP00000385017.2:p.Ala1199Ser
ENST00000401710.5:c.490G>T	ENSP00000385580.2:p.Ala164Ser
ENST00000404971.5:c.3715G>T	ENSP00000385142.1:p.Ala1239Ser
ENST00000405472.7:c.3559G>T	ENSP00000434015.2:p.Ala1187Ser
ENST00000406316.6:c.3595G>T	ENSP00000384311.2:p.Ala1199Ser
ENST00000611589.4:c.-243G>T	ENSP00000483634.1:n.-243G>T
ENST00000625672.2:c.3571G>T	ENSP00000485887.1:p.Ala1191Ser
ENST00000628364.2:c.490G>T	ENSP00000485815.1:p.Ala164Ser
ENST00000630543.2:c.3571G>T	ENSP00000486879.1:p.Ala1191Ser
ENST00000635264.1:n.404G>T
NM_001135659.1:c.3715G>T	NP_001129131.1:p.Ala1239Ser
NM_004801.4:c.3595G>T	NP_004792.1:p.Ala1199Ser
NM_138735.2:c.490G>T	NP_620072.1:p.Ala164Ser
XM_005264642.2:c.3616G>T	XP_005264699.1:p.Ala1206Ser
XM_005264643.2:c.3571G>T	XP_005264700.1:p.Ala1191Ser
XM_006712137.2:c.3616G>T	XP_006712200.1:p.Ala1206Ser
XM_006712140.2:c.3616G>T	XP_006712203.1:p.Ala1206Ser
XM_006712141.2:c.3616G>T	XP_006712204.1:p.Ala1206Ser
XM_011533167.1:c.3616G>T	XP_011531469.1:p.Ala1206Ser
XM_011533168.1:c.3613G>T	XP_011531470.1:p.Ala1205Ser
XM_011533169.1:c.3604G>T	XP_011531471.1:p.Ala1202Ser
XM_011533170.1:c.3598G>T	XP_011531472.1:p.Ala1200Ser
XM_011533171.1:c.3595G>T	XP_011531473.1:p.Ala1199Ser
XM_011533172.1:c.3589G>T	XP_011531474.1:p.Ala1197Ser
XM_011533173.1:c.3586G>T	XP_011531475.1:p.Ala1196Ser
XM_011533174.1:c.3571G>T	XP_011531476.1:p.Ala1191Ser
XM_011533175.1:c.3559G>T	XP_011531477.1:p.Ala1187Ser
XM_011533176.1:c.3556G>T	XP_011531478.1:p.Ala1186Ser
XM_011533177.1:c.3616G>T	XP_011531479.1:p.Ala1206Ser
XM_011533178.1:c.3526G>T	XP_011531480.1:p.Ala1176Ser
XM_011533179.1:c.3571G>T	XP_011531481.1:p.Ala1191Ser
XM_011533180.1:c.3616G>T	XP_011531482.1:p.Ala1206Ser
XM_011533181.1:c.2821G>T	XP_011531483.1:p.Ala941Ser
XM_011533182.1:c.2776G>T	XP_011531484.1:p.Ala926Ser
XM_011533183.1:c.2749G>T	XP_011531485.1:p.Ala917Ser
XM_011533184.1:c.2656G>T	XP_011531486.1:p.Ala886Ser
NM_001135659.2:c.3715G>T	NP_001129131.1:p.Ala1239Ser
NM_001330077.1:c.3571G>T	NP_001317006.1:p.Ala1191Ser
NM_001330078.1:c.3595G>T	NP_001317007.1:p.Ala1199Ser
NM_001330082.1:c.3571G>T	NP_001317011.1:p.Ala1191Ser
NM_001330083.1:c.3529G>T	NP_001317012.1:p.Ala1177Ser
NM_001330084.1:c.3529G>T	NP_001317013.1:p.Ala1177Ser
NM_001330085.1:c.3568G>T	NP_001317014.1:p.Ala1190Ser
NM_001330086.1:c.3595G>T	NP_001317015.1:p.Ala1199Ser
NM_001330087.1:c.3484G>T	NP_001317016.1:p.Ala1162Ser
NM_001330088.1:c.3514G>T	NP_001317017.1:p.Ala1172Ser
NM_001330091.1:c.490G>T	NP_001317020.1:p.Ala164Ser
NM_001330092.1:c.490G>T	NP_001317021.1:p.Ala164Ser
NM_001330093.1:c.3592G>T	NP_001317022.1:p.Ala1198Ser
NM_001330094.1:c.3583G>T	NP_001317023.1:p.Ala1195Ser
NM_001330095.1:c.3544G>T	NP_001317024.1:p.Ala1182Ser
NM_001330096.1:c.3484G>T	NP_001317025.1:p.Ala1162Ser
NM_001330097.1:c.490G>T	NP_001317026.1:p.Ala164Ser
NM_004801.5:c.3595G>T	NP_004792.1:p.Ala1199Ser
NM_138735.4:c.490G>T	NP_620072.1:p.Ala164Ser
XM_005264642.4:c.3616G>T	XP_005264699.1:p.Ala1206Ser
XM_006712137.4:c.3616G>T	XP_006712200.1:p.Ala1206Ser
XM_006712140.4:c.3643G>T	XP_006712203.2:p.Ala1215Ser
XM_011533167.3:c.3616G>T	XP_011531469.1:p.Ala1206Ser
XM_011533172.3:c.3589G>T	XP_011531474.1:p.Ala1197Ser
XM_011533175.3:c.3559G>T	XP_011531477.1:p.Ala1187Ser
XM_011533177.3:c.3616G>T	XP_011531479.1:p.Ala1206Ser
XM_011533178.3:c.3526G>T	XP_011531480.1:p.Ala1176Ser
XM_011533180.3:c.3616G>T	XP_011531482.1:p.Ala1206Ser
XM_011533183.2:c.2749G>T	XP_011531485.1:p.Ala917Ser
XM_017005303.2:c.3643G>T	XP_016860792.1:p.Ala1215Ser
XM_017005304.2:c.3640G>T	XP_016860793.1:p.Ala1214Ser
XM_017005305.2:c.3643G>T	XP_016860794.1:p.Ala1215Ser
XM_017005306.2:c.3631G>T	XP_016860795.1:p.Ala1211Ser
XM_017005307.2:c.3625G>T	XP_016860796.1:p.Ala1209Ser
XM_017005308.2:c.3622G>T	XP_016860797.1:p.Ala1208Ser
XM_017005309.2:c.3616G>T	XP_016860798.1:p.Ala1206Ser
XM_017005310.2:c.3613G>T	XP_016860799.1:p.Ala1205Ser
XM_017005311.2:c.3598G>T	XP_016860800.1:p.Ala1200Ser
XM_017005314.2:c.3583G>T	XP_016860803.1:p.Ala1195Ser
XM_017005315.2:c.3589G>T	XP_016860804.1:p.Ala1197Ser
XM_017005316.2:c.3580G>T	XP_016860805.1:p.Ala1194Ser
XM_017005318.2:c.3571G>T	XP_016860807.1:p.Ala1191Ser
XM_017005320.2:c.3568G>T	XP_016860809.1:p.Ala1190Ser
XM_017005321.2:c.3643G>T	XP_016860810.1:p.Ala1215Ser
XM_017005322.2:c.3643G>T	XP_016860811.1:p.Ala1215Ser
XM_017005324.2:c.3589G>T	XP_016860813.1:p.Ala1197Ser
XM_017005325.2:c.3589G>T	XP_016860814.1:p.Ala1197Ser
XM_017005326.2:c.3577G>T	XP_016860815.1:p.Ala1193Ser
XM_017005327.2:c.3571G>T	XP_016860816.1:p.Ala1191Ser
XM_017005329.2:c.3643G>T	XP_016860818.1:p.Ala1215Ser
XM_017005334.2:c.2683G>T	XP_016860823.1:p.Ala895Ser
NM_001330078.2:c.3595G>T MANE Select	NP_001317007.1:p.Ala1199Ser
NM_001135659.3:c.3715G>T	NP_001129131.1:p.Ala1239Ser
NM_001330077.2:c.3571G>T	NP_001317006.1:p.Ala1191Ser
NM_001330082.2:c.3571G>T	NP_001317011.1:p.Ala1191Ser
NM_001330083.2:c.3529G>T	NP_001317012.1:p.Ala1177Ser
NM_001330084.2:c.3529G>T	NP_001317013.1:p.Ala1177Ser
NM_001330085.2:c.3568G>T	NP_001317014.1:p.Ala1190Ser
NM_001330086.2:c.3595G>T	NP_001317015.1:p.Ala1199Ser
NM_001330087.2:c.3484G>T	NP_001317016.1:p.Ala1162Ser
NM_001330088.2:c.3514G>T	NP_001317017.1:p.Ala1172Ser
NM_001330091.2:c.490G>T	NP_001317020.1:p.Ala164Ser
NM_001330092.2:c.490G>T	NP_001317021.1:p.Ala164Ser
NM_001330093.2:c.3592G>T	NP_001317022.1:p.Ala1198Ser
NM_001330094.2:c.3583G>T	NP_001317023.1:p.Ala1195Ser
NM_001330095.2:c.3544G>T	NP_001317024.1:p.Ala1182Ser
NM_001330096.2:c.3484G>T	NP_001317025.1:p.Ala1162Ser
NM_001330097.2:c.490G>T	NP_001317026.1:p.Ala164Ser
NM_004801.6:c.3595G>T	NP_004792.1:p.Ala1199Ser
NM_138735.5:c.490G>T	NP_620072.1:p.Ala164Ser